Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is associated with twisted actin filaments and altered...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2020-06-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-020-16526-9 |
| _version_ | 1818422436394172416 |
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| author | Johan Lindqvist Weikang Ma Frank Li Yaeren Hernandez Justin Kolb Balazs Kiss Paola Tonino Robbert van der Pijl Esmat Karimi Henry Gong Josh Strom Zaynab Hourani John E. Smith Coen Ottenheijm Thomas Irving Henk Granzier |
| author_facet | Johan Lindqvist Weikang Ma Frank Li Yaeren Hernandez Justin Kolb Balazs Kiss Paola Tonino Robbert van der Pijl Esmat Karimi Henry Gong Josh Strom Zaynab Hourani John E. Smith Coen Ottenheijm Thomas Irving Henk Granzier |
| author_sort | Johan Lindqvist |
| collection | DOAJ |
| description | Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is associated with twisted actin filaments and altered tropomyosin and troponin behaviour. |
| first_indexed | 2024-12-14T13:26:13Z |
| format | Article |
| id | doaj.art-fb151f3beab74614afcba240bd5ebe48 |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-14T13:26:13Z |
| publishDate | 2020-06-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-fb151f3beab74614afcba240bd5ebe482022-12-21T22:59:50ZengNature PortfolioNature Communications2041-17232020-06-0111111710.1038/s41467-020-16526-9Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanismJohan Lindqvist0Weikang Ma1Frank Li2Yaeren Hernandez3Justin Kolb4Balazs Kiss5Paola Tonino6Robbert van der Pijl7Esmat Karimi8Henry Gong9Josh Strom10Zaynab Hourani11John E. Smith12Coen Ottenheijm13Thomas Irving14Henk Granzier15Department of Cellular and Molecular Medicine, University of ArizonaDepartment of Biology, Illinois Institute of TechnologyDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Biology, Illinois Institute of TechnologyDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Cellular and Molecular Medicine, University of ArizonaDepartment of Biology, Illinois Institute of TechnologyDepartment of Cellular and Molecular Medicine, University of ArizonaNebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is associated with twisted actin filaments and altered tropomyosin and troponin behaviour.https://doi.org/10.1038/s41467-020-16526-9 |
| spellingShingle | Johan Lindqvist Weikang Ma Frank Li Yaeren Hernandez Justin Kolb Balazs Kiss Paola Tonino Robbert van der Pijl Esmat Karimi Henry Gong Josh Strom Zaynab Hourani John E. Smith Coen Ottenheijm Thomas Irving Henk Granzier Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism Nature Communications |
| title | Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism |
| title_full | Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism |
| title_fullStr | Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism |
| title_full_unstemmed | Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism |
| title_short | Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism |
| title_sort | triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism |
| url | https://doi.org/10.1038/s41467-020-16526-9 |
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